NIPA1

GENERAL INFORMATION

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Gene name

NIPA1

Gene description

Non imprinted in Prader-Willi/Angelman syndrome 1

Protein class

Disease related genes
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

Membrane

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Most squamous epithelial cells, urothelial cells and epididymis showed moderate to strong membranous staining while prostate showed strong cytoplasmic positivity. Remaining normal tissues were generally weakly stained or negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA023269
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Prostate



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

NIPA1 (HGNC Symbol)

Synonyms

MGC35570, SPG6

Description

Non imprinted in Prader-Willi/Angelman syndrome 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6. [provided by RefSeq, Nov 2008]

Chromosome

15

Cytoband

q11.2

Chromosome location (bp)

22773063 - 22829791

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000170113 (version 78.38)

Entrez gene

123606

UniProt

Q7RTP0 (UniProt - Evidence at protein level)

neXtProt

NX_Q7RTP0

Antibodypedia

NIPA1 antibodies


PROTEIN BROWSER

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ENST00000337435
 
ENST00000437912
 
ENST00000561183
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NIPA1-001 ENSP00000337452
ENST00000337435
Q7RTP0
Show all »
Show » Show » 329 34.6 Yes 9
NIPA1-003 ENSP00000453722
ENST00000561183
Q7RTP0
Show all »
Show » Show » 254 27.3 No 7
NIPA1-004 ENSP00000393962
ENST00000437912
Q7RTP0
Show all »
Show » Show » 254 27.3 No 7